{"id":"d65e6722-2d39-56ed-abd8-3ac0caa584c3","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-taut-new-variants","predicate":"variants_abolish","statement":"SLC6A6 p.Thr249Ile and p.Ala294Thr missense variants showed complete loss of taurine transport in HEK293 cells and patient fibroblasts in the four-family study of seven affected individuals.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"8a60f545-1af1-5c59-aa5b-c75737e3a105","mechanism_event_label":"Some disease variants had no measurable transport in the tested cells.","subject":{"id":"c00b89ac-1c32-5d7d-aec4-490af879460a","slug":"slc6a6","display_name":"Human taurine transporter / SLC6A6","entity_type_key":"protein"},"object":{"id":"7258e667-abea-555f-9ee6-a4ccee0fd02a","slug":"human-taut-uptake","display_name":"Human SLC6A6-mediated cellular taurine uptake","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"8a60f545-1af1-5c59-aa5b-c75737e3a105","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-taut-new-variants-event","event_type":"observed_relationship","label":"Some disease variants had no measurable transport in the tested cells.","description":"SLC6A6 p.Thr249Ile and p.Ala294Thr missense variants showed complete loss of taurine transport in HEK293 cells and patient fibroblasts in the four-family study of seven affected individuals.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"c00b89ac-1c32-5d7d-aec4-490af879460a","slug":"slc6a6","display_name":"Human taurine transporter / SLC6A6","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"7258e667-abea-555f-9ee6-a4ccee0fd02a","slug":"human-taut-uptake","display_name":"Human SLC6A6-mediated cellular taurine uptake","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"e423cd36-f183-522b-a5e4-5f9ef50eee7e","slug":"taurine","display_name":"Taurine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; 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